Cited 3 times in
Null variants in DYSF result in earlier symptom onset
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 김승우 | - |
dc.contributor.author | 박형준 | - |
dc.contributor.author | 신하영 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.date.accessioned | 2021-04-29T17:20:24Z | - |
dc.date.available | 2021-04-29T17:20:24Z | - |
dc.date.issued | 2021-03 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/182293 | - |
dc.description.abstract | We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patients. Median ages at examination and symptom onset were 23 [interquartile range (IQR): 18-30] and 36 years [IQR: 27-48], respectively. We observed 38 variants, including nine novel variants. Four variants (c.2494C > T, c.1284 + 2 T > C, c.663 + 1G > C, and c.2997G > T) in DYSF accounted for 62% of total allele frequencies of pathogenic variants. To analyze the genotype-phenotype correlation, we compared the clinical phenotype between patients with null/null (N/N; n = 55) and null/missense variants (N/M; n = 35). The N/N group had an earlier symptom onset age (median: 20 years [IQR: 17-25]) than the N/M group (median: 29 years [IQR: 23-35], p < .001). Total manual muscle testing scores in lower extremities were lower in the N/N group (median: 80 [IQR: 56-92]) than in the N/M group (median: 89 [IQR: 78-98], p = .013). Our study is the first to report that null variants in DYSF result in an earlier symptom onset than missense variants. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Munksgaard | - |
dc.relation.isPartOf | CLINICAL GENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Null variants in DYSF result in earlier symptom onset | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.contributor.googleauthor | Young Bin Hong | - |
dc.contributor.googleauthor | Ji-Man Hong | - |
dc.contributor.googleauthor | UnKyu Yun | - |
dc.contributor.googleauthor | Seung Woo Kim | - |
dc.contributor.googleauthor | Ha Young Shin | - |
dc.contributor.googleauthor | Seung Min Kim | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.identifier.doi | 10.1111/cge.13887 | - |
dc.contributor.localId | A00653 | - |
dc.contributor.localId | A04901 | - |
dc.contributor.localId | A01758 | - |
dc.contributor.localId | A02170 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J00574 | - |
dc.identifier.eissn | 1399-0004 | - |
dc.identifier.pmid | 33215690 | - |
dc.identifier.url | https://onlinelibrary.wiley.com/doi/10.1111/cge.13887 | - |
dc.subject.keyword | Miyoshi myopathy | - |
dc.subject.keyword | dysferlin | - |
dc.subject.keyword | dysferlinopathy | - |
dc.subject.keyword | genetic profile | - |
dc.subject.keyword | limb-girdle muscular dystrophy | - |
dc.subject.keyword | type 2B | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.affiliatedAuthor | 김승민 | - |
dc.contributor.affiliatedAuthor | 김승우 | - |
dc.contributor.affiliatedAuthor | 박형준 | - |
dc.contributor.affiliatedAuthor | 신하영 | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.contributor.affiliatedAuthor | 홍지만 | - |
dc.citation.volume | 99 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 396 | - |
dc.citation.endPage | 406 | - |
dc.identifier.bibliographicCitation | CLINICAL GENETICS, Vol.99(3) : 396-406, 2021-03 | - |
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